Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315406
rs74315406
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.020 GeneticVariation BEFREE We have examined the role of molecular chaperones in the folding of normal and mutant PrP Q217R (PrP(217)) in transfected neuroblastoma cells. 10970892

2000

dbSNP: rs74315406
rs74315406
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.020 GeneticVariation BEFREE We developed a cell model of Gerstmann-Sträussler-Scheinker disease, a neurodegenerative condition characterized by PrPM-containing amyloid deposits and neuronal loss, by expressing the Gerstmann-Sträussler-Scheinker haplotype Q217R-129V in human neuroblastoma cells. 9353306

1997